In gene medicine, variant analysis helps doctors turn DNA data into useful health insights. The process starts by filtering out common gene changes using databases like gnomAD. Then, tools like CADD and REVEL predict if the remaining variants might cause problems. Other tools, such as SIFT and PolyPhen-2, check for protein damage, while SpliceAI finds […]
In the realm of genomics research, the error rate serves as a critical indicator of the reliability associated with sequencing technologies. Elevated error rates can result in false positive or false negative variant detections, consequently affecting the completeness and accuracy of genome assembly. PacBio and Nanopore are two prominent representatives of long-read sequencing technologies that […]
Introduction to Genotype and Phenotype The field of genetics has seen remarkable advancements in recent decades, particularly regarding the intricate relationship between genotype and phenotype. These foundational concepts are crucial for elucidating the complex mechanisms underpinning the inheritance and expression of traits across all organisms. The term “genotype” denotes the genetic constitution of an organism, […]
What Is CRISPR CRISPR, or Clustered Regularly Interspaced Short Palindromic Repeats, is a revolutionary technology that harnesses the adaptive immune system of bacteria. Originally discovered in bacteria as a defense mechanism against viruses, CRISPR allows organisms to store segments of viral DNA, which can be transcribed into RNA to guide RNA-guided endonucleases (like Cas9) to […]
CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) technology has revolutionized the field of genetic engineering. This powerful tool allows for precise, targeted modifications of the genome, making it an essential component in modern biotechnology. The mechanism behind CRISPR involves the use of guide RNA (gRNA) and CRISPR-associated proteins (Cas), which together create site-specific double-strand breaks […]
Introduction T cell receptors (TCRs) are crucial components of the adaptive immune system, enabling T cells to recognize and respond to specific antigens. The TCR’s role is pivotal in immune surveillance and defense against pathogens. This article delves into the intricacies of TCR structure, function, signaling pathways, and testing methodologies, providing a comprehensive overview supported by […]
Introduction to T Cell Receptor Signaling T cell receptor (TCR) signaling is essential for the activation and function of T lymphocytes, which are key players in adaptive immunity. The TCR complex, consisting of the TCR α and β chains in conjunction with the CD3 and ζ (zeta) chains, specifically recognizes peptide-MHC (Major Histocompatibility Complex) complexes presented […]
In the field of genomics, two notable methodologies for DNA sequencing have risen to prominence: Primer Walking Sequencing and Shotgun Sequencing. These techniques, although distinct in their approaches, stand as indispensable instruments for deciphering the intricacies inherent within the genetic code. This discourse endeavors to dissect the nuances of both methodologies, elucidating their fundamental principles, […]
Recombinant adeno-associated virus (AAV) has emerged as one of the primary vectors for gene therapy. This is because it has many desirable properties, including lack of pathogenicity, efficient infection of dividing and non-dividing cells, and sustained maintenance of the viral genome. With an excellent safety profile in numerous preclinical studies and hundreds of clinical trials […]
Functional metagenomics is a powerful method for discovering new biocatalysts from a wide range of environmental samples. The building of metagenomic libraries is usually accompanied by the selection of clones expressing the desired phenotype, such as enzymatic or antimicrobial activity, antibiotic/xenobiotic resistance, or the capacity to disintegrate toxic compounds or environmental pollutants. Gene annotation is […]
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